### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = DBT)
# charset = UTF-8

## Genes ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{name}}"	"{{chromosome}}"	"{{chrom_band}}"	"{{imprinting}}"	"{{refseq_genomic}}"	"{{refseq_UD}}"	"{{reference}}"	"{{url_homepage}}"	"{{url_external}}"	"{{allow_download}}"	"{{id_hgnc}}"	"{{id_entrez}}"	"{{id_omim}}"	"{{show_hgmd}}"	"{{show_genecards}}"	"{{show_genetests}}"	"{{show_orphanet}}"	"{{note_index}}"	"{{note_listing}}"	"{{refseq}}"	"{{refseq_url}}"	"{{disclaimer}}"	"{{disclaimer_text}}"	"{{header}}"	"{{header_align}}"	"{{footer}}"	"{{footer_align}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{updated_by}}"	"{{updated_date}}"
"DBT"	"dihydrolipoamide branched chain transacylase E2"	"1"	"p21.2"	"unknown"	"NG_011852.2"	"UD_144416080113"	""	""	""	"1"	"2698"	"1629"	"248610"	"1"	"1"	"1"	"0"	""	""	""	""	"1"	""	""	"-1"	""	"-1"	"00001"	"2020-12-06 09:41:52"	""	""	"00005"	"2021-08-23 15:51:41"


## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{geneid}}"	"{{name}}"	"{{id_mutalyzer}}"	"{{id_ncbi}}"	"{{id_ensembl}}"	"{{id_protein_ncbi}}"	"{{id_protein_ensembl}}"	"{{id_protein_uniprot}}"	"{{remarks}}"	"{{position_c_mrna_start}}"	"{{position_c_mrna_end}}"	"{{position_c_cds_end}}"	"{{position_g_mrna_start}}"	"{{position_g_mrna_end}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00000054"	"DBT"	"dihydrolipoamide branched chain transacylase E2"	"002"	"NM_001918.3"	""	"NP_001909.3"	""	""	""	"-33"	"10782"	"1449"	"100249853"	"100186922"	"00001"	"2020-12-06 09:48:58"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00034"	"MSUD"	"maple syrup urine disease"	""	""	""	""	""	"00001"	"2020-12-03 15:31:35"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"DBT"	"00034"


## Individuals ## Do not remove or alter this header ##
## Count = 2
"{{id}}"	"{{fatherid}}"	"{{motherid}}"	"{{panelid}}"	"{{panel_size}}"	"{{license}}"	"{{owned_by}}"	"{{Individual/Reference}}"	"{{Individual/Remarks}}"	"{{Individual/Remarks_Non_Public}}"	"{{Individual/Origin/Geographic}}"	"{{Individual/Origin/Ethnic}}"	"{{Individual/Origin/Population}}"	"{{Individual/Gender}}"
"00000224"	""	""	""	"1"	""	"00002"	"{PMID:Ernie Zuraida Ali et al. (2018):30228974}"	""	""	"Malaysia"	"Malay"	""	"F"
"00000225"	""	""	""	"1"	""	"00002"	"{PMID:Ernie Zuraida Ali et al. (2018):30228974}"	""	""	"Malaysia"	"Malay"	""	"M"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{individualid}}"	"{{diseaseid}}"
"00000224"	"00034"
"00000225"	"00034"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00034
## Count = 2
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Inheritance}}"
"0000000110"	"00034"	"00000224"	"00002"	""	"Familial, autosomal recessive"
"0000000111"	"00034"	"00000225"	"00002"	""	"Familial, autosomal recessive"


## Screenings ## Do not remove or alter this header ##
## Count = 2
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"
"0000000239"	"00000224"	"1"	"00002"	"00002"	"2020-12-06 12:00:23"	""	""	"SEQ"	"DNA"
"0000000240"	"00000225"	"1"	"00002"	"00002"	"2020-12-06 12:13:33"	""	""	"PCR;SEQ"	"DNA"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}"	"{{geneid}}"
"0000000239"	"DBT"
"0000000240"	"DBT"


## Variants_On_Genome ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Count = 6
"{{id}}"	"{{allele}}"	"{{effectid}}"	"{{chromosome}}"	"{{position_g_start}}"	"{{position_g_end}}"	"{{type}}"	"{{average_frequency}}"	"{{owned_by}}"	"{{VariantOnGenome/DBID}}"	"{{VariantOnGenome/DNA}}"	"{{VariantOnGenome/Frequency}}"	"{{VariantOnGenome/Reference}}"	"{{VariantOnGenome/Published_as}}"	"{{VariantOnGenome/Remarks}}"	"{{VariantOnGenome/dbSNP}}"
"0000001120"	"0"	"90"	"1"	"100206587"	"100206588"	"ins"	"0"	"00002"	"DBT_000001"	"g.100206587_100206588insA"	"1/5"	"{PMID:Ernie Zuraida Ali et al. (2018):30228974}"	"V356Cfs*3"	""	""
"0000001121"	"0"	"50"	"1"	"100196322"	"100196322"	"subst"	"0"	"00002"	"DBT_000002"	"g.100196322G>C"	"1/5"	"{PMID:Ernie Zuraida Ali et al. (2018):30228974}, {dbSNP:rs1553228626}, {ClinVar:557174}"	"S461*"	""	"rs1553228626"
"0000001122"	"0"	"90"	"1"	"100206458"	"100206458"	"subst"	"0"	"00002"	"DBT_000003"	"g.100206458G>C"	"1/5"	"{PMID:Ernie Zuraida Ali et al. (2018):30228974}, {dbSNP:rs1564433154}, {ClinVar:591466}"	"S399C"	""	"rs1564433154"
"0000001123"	"3"	"50"	"1"	"100206458"	"100206458"	"subst"	"0"	"00002"	"DBT_000003"	"g.100206458G>C"	"6/10"	"{PMID:Ernie Zuraida Ali et al. (2018):30228974}, {dbSNP:rs1564433154}, {ClinVar: 591466}"	"S399C"	""	"rs1564433154"
"0000001124"	"0"	"50"	"1"	"100249765"	"100249765"	"subst"	"0"	"00002"	"DBT_000004"	"g.100249765C>G"	"2/10"	"{PMID:Ernie Zuraida Ali et al. (2018):30228974}, {dbSNP:rs398123670}, {ClinVar:94004}"	""	""	"rs398123670"
"0000001125"	"0"	"50"	"1"	"100206458"	"100206458"	"subst"	"0"	"00002"	"DBT_000003"	"g.100206458G>C"	"2/10"	"{PMID:Ernie Zuraida Ali et al. (2018):30228974},{dbSNP:rs1564433154} , {ClinVar:591466}"	"S399C"	""	"rs1564433154"


## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes DBT
## Count = 6
"{{id}}"	"{{transcriptid}}"	"{{effectid}}"	"{{position_c_start}}"	"{{position_c_start_intron}}"	"{{position_c_end}}"	"{{position_c_end_intron}}"	"{{VariantOnTranscript/DNA}}"	"{{VariantOnTranscript/Exon}}"	"{{VariantOnTranscript/Protein}}"	"{{VariantOnTranscript/RNA}}"	"{{VariantOnTranscript/Published_as}}"	"{{VariantOnTranscript/GVS/Function}}"	"{{VariantOnTranscript/VariantOnTranscript}}"
"0000001120"	"00000054"	"90"	"1066"	"0"	"1067"	"0"	"c.1066_1067insT"	"9"	"p.(Asn358*)"	"r.(?)"	""	""	""
"0000001121"	"00000054"	"50"	"1382"	"0"	"1382"	"0"	"c.1382C>G"	"11"	"p.(Ser461*)"	"r.(?)"	""	""	"{ClinVar:557174}"
"0000001122"	"00000054"	"90"	"1196"	"0"	"1196"	"0"	"c.1196C>G"	"9"	"p.(Ser399Cys)"	"r.(?)"	""	""	"{ClinVar:591466}"
"0000001123"	"00000054"	"50"	"1196"	"0"	"1196"	"0"	"c.1196C>G"	"9"	"p.(Ser399Cys)"	"r.(?)"	""	""	"{ClinVar: 591466}"
"0000001124"	"00000054"	"50"	"51"	"5"	"51"	"5"	"c.51+5G>C"	"1i"	"p.?"	"r.spl?"	""	""	"{ClinVar:94004}"
"0000001125"	"00000054"	"50"	"1196"	"0"	"1196"	"0"	"c.1196C>G"	"9"	"p.(Ser399Cys)"	"r.(?)"	""	""	"{ClinVar:591466}"


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 6
"{{screeningid}}"	"{{variantid}}"
"0000000239"	"0000001120"
"0000000239"	"0000001121"
"0000000239"	"0000001122"
"0000000240"	"0000001123"
"0000000240"	"0000001124"
"0000000240"	"0000001125"